DANAK

Reg. No. 1024 Accreditation for medical examination

Page: 1
In case of discrepancy between English text (regular) and Danish text (italics), the Danish text is valid
IUPAC System Component Method Equipment/Principle Location
Genomic DNA from blood, CVS, amniotic fluid, saliva, tissue biopsy, cell culture
Genomisk DNA oprenset fra blod, CVS, amnion, spyt, vævsbiopsi, dyrkede celler
DNA purification
DNA oprensning
643888, 480517
643888, 480517
DNA purification using MaxWell RSC or Tecan Freedom EVO
DNA oprensning med MaxWell RSC eller Tecan Freedom EVO
Chromosomes from cell culture on blood, CVS, amniotic fluid and cultured cells (fibroblasts). Chromosomes without cell culture on blood, CVS, amniotic fluid.
Kromosomer fra celledyrkning på blod, CVS, amnion og dyrkede celler (fibroblaster). Kromosomer uden celledyrkning på blod, CVS og amnion.
FISH
FISH
515344, 67093, 69272, 423443
515344, 67093, 69272, 423443
Cell culture, Fluorescense In Situ Hybridization
Celledyrkning, Fluorescens In Situ Hybridization
Genomic DNA from blood, CVS, amniotic fluid, saliva, cultured cells (fibroblasts).
Genomisk DNA fra blod, CVS, amnion, spyt og dyrkede celler (fibroblaster).
Array, SNP Genomewide CNV/LOH
Array, SNP Genomewide CNV/LOH
515344, 67093, 339965, 704361, 391667
515344, 67093, 339965, 704361, 391667
Cell culture, DNA purification, Array on Affymetrix CytoScan 750K or CytoScan HD.
Celledyrkning, DNA oprensning, Array på Affymetrix CytoScan 750K eller CytoScan HD.
Genomic DNA from blood, amniotic fluid, CVS and cultured cells (fibroblasts).
Genomisk DNA fra blod, amnion, CVS og dyrkede celler (fibroblaster).
Chromosomal analysis
Kromosomundersøgelse/Kromosomanalyse
515344, 67093, 68058, 69272, 423443
515344, 67093, 68058, 69272, 423443
Cell culture, DNA purification, Chromosomal analysis and FISH
Celledyrkning, DNA-oprensning, Kromosomundersøgelse og FISH
Genomic DNA from blood, CVS, amniotic fluid, tissue biopsy (product of conception, achilles tendon), fibroblasts (not cultured), cultured cells (also fibroblasts)
Genomisk DNA fra blod, CVS, amnion, vævsbiopsi (abortvæv, achillessene), fibroblaster (uden celledyrkning), dyrkede celler (også fibroblaster)
Aneuploidy screening (13,18,21,X,Y);DNA
Aneuploidiscreen (13,18,21,X,Y);DNA
515344, 67093, 515344, 67093, 175608, 261838
515344, 67093, 515344, 67093, 175608, 261838
Cell culture, DNA purification, QF-PCR
Celledyrkning, DNA oprensning, QF-PCR.
Genomic DNA from blood, CVS, amniotic fluid and cultured cells (fibroblasts)
Genomisk DNA fra blod, CVS, amnion og dyrkede celler (fibroblaster)
rsa 15q11.2q13;DNA Angelman/Prader Willi syndrome
rsa 15q11.2q13;DNA Angelman/Prader Willi syndrom
515344, 67093, 181497, 417262
515344, 67093, 181497, 417262
Cell culture, DNA purification, MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
Celledyrkning, DNA oprensning, MS-MLPA (MRC Holland), array (Affymetrix CytoScan)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Temple syndrome
Temple syndrom
181497, 417262
181497, 417262
DNA purification, MS-MLPA (MRC Holland)
MS-MLPA (MRC Holland)
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Kagami-Ogata syndrome
Kagami-Ogata syndrom
181497, 417262
181497, 417262
DNA purification, MS-MLPA (MRC Holland)
DNA oprensning, MS-MLPA (MRC Holland)
NPU19079 Genomic DNA from blood, CVS
Genomisk DNA fra blod, CVS
FMR1-gene;DNA
FMR1-gen;DNA
Fragile X syndrome 225073, 385586
Fragilt X syndrom 225073, 385586
DNA purification, Fragment analysis using AmplideX FMR1 PCR kit on ABI 3730XL DNA Analyzer
DNA oprensning, Fragment analyse med AmplideX FMR1 PCR kit på ABI 3730XL DNA Analyzer
NPU35855 Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Uniparental disomy, chromosome 7; DNA
Uniparental disomi, kromosom 7;DNA
Uniparental disomy, chromosome 7 246379, 385425
Uniparental disomi, kromosom 7 246379, 385425
DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genomic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Uniparental disomy, chromosome 14;DNA
Uniparental disomi, kromosom 14;DNA
Uniparental disomy, chromosome 14 246379, 385425
Uniparental disomi, kromosom 14 246379, 385425
DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genoic DNA from blood, CVS, amniotic fluid and skin biopsy
Genomisk DNA fra blod, CVS, amnion og hudbiopsi
Uniparental disomy, chromosome 15;DNA
Uniparental disomi, kromosom 15;DNA
Uniparental disomy, chromosome 15 246379, 385425
Uniparental disomi, kromosom 15 246379, 385425
DNA purification, Fragment analysis on ABI 3730 XL DNA Analyzer
DNA oprensning, Fragment analyse på ABI 3730 XL DNA Analyzer
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary Hemorrhagic Telangiectasia, HHT, panel Version 1 011122
Hereditær hæmorrhagisk telangiektasi, HHT, panel Version 1 011122
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary pancreatitis panel Version 1 011122.
Hereditær pancreatitis panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
PHEX-gene;DNA
PHEX-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
AIP-gene;DNA
AIP-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
CDH-gene; DNA
CDH-gen; DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
PTEN-gene; DNA
PTEN-gen; DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
STK11-gene; DNA
STK11-gen; DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
TP53-gene; DNA
TP53-gen; DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
NPU53990 Genomic DNA purified from plasma from pregnant mother.
Genomisk DNA oprenset fra plasma fra den gravide.
NIPT
NIPT
507419, 670441, 509956
507419, 670441, 509956
DNA purification using QIAmp kit. Sample prep using ThruPlex Plasma-seq kit. NGS using Illumina NovaSeq 6000. Bioinformatics using Wisecondor og SeqFF.
DNA oprensning med QIAmp kit. Sample prep med ThruPlex Plasma-seq kit.NGS med Illumina NovaSeq 6000. Bioinformatik med Wisecondor og SeqFF.
Genomic DNA from blood
Genomisk DNA fra blod
HMBS-gene;DNA
HMBS-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Erythropoietic Protoporphyria panel Version 1 011122
Erythropoietisk protoporfyri panel Version 1 011122
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
CPOX-gene;DNA
CPOX-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
UROS-gene;DNA
UROS-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
UROD-gene;DNA
UROD-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
PPOX-gene;DNA
PPOX-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Acute porphyria panel Version 1 011122
Akutte porfyrier panel Version 1 011122
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Alport syndrome panel Version 1 011122.
Alport syndrom panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Thin basement membrane disease Version 1 011122.
Tynd basalmembransygdom Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary mammary cancer Version 1 011122.
Arvelig mammacancer panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary melanoma panel Version 1 011122.
Arvelig malignt melanom panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary mammary and ovarian cancer panel Version 1 011122.
Arvelig mamma og ovariecancer panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Lynch syndrome panel Version 1 011122.
Lynch syndrom panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary ovarian cancer panel Version 1 011122.
Arvelig ovariecancer panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hereditary colorectal cancer/polyp panel Version 1 011122.
Arvelig colorectal cancer/polyp panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hyperinsulin hypoglyk 1,2,3,6 panel Version 1 011122.
Hyperinsulin hypoglyk 1,2,3,6 panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Hyperinsulin hypoglyk extended panel Version 1 011122.
Hyperinsulin hypoglyk udvidet panel Version 1 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Monogen diab. mel. MODY 1-5 panel Version 011122
Monogen diab. mel. MODY 1-5 panel Version 011122
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Monogen diab. mel. MODY 1-13 panel Version 011122.
Monogen diab. mel. MODY 1-13 panel Version 011122.
NGS Twist Exome, nov. 2022 733509, 738780, 915276, 294530, 291890, 62046, 771281, 935684, 282393
NGS Twist Exome, nov. 2022 733509, 738780, 915276, 294530, 291890, 62046, 771281, 935684, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing, MLPA and VNTR (CEL-gene) using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA og VNTR (CEL-gen) med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Neonatal dia.mel. PNDM/TNDM panel Version 011122.
Neonatal dia.mel. PNDM/TNDM panel Version 011122.
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Neonatal dia.mel. PNDM/TNDM extended oanel Version 011122
Neonatal dia.mel. PNDM/TNDM udvpanel Version 011122
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
INS-gene;DNA
INS-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
INSR-gene;DNA
INSR-gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
FOXP3-gene;DNA
FOXP3gen;DNA
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
EIF2AK3-gene;DNA
EIF2AK3-gen;DNA
Wolcott-Rallison syndrome: NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
Wolcott-Rallison syndrom: NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering, MLPA med ABI 3730XL DNA analyzer. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood, CVS, amniotic fluid, tissue biopsy (product of conception, skin biopsy, achilles tendon)
Genomisk DNA fra blod, CVS, amnion, vævsbiopsi (abortvæv, hudbiopsi, achillessene)
Genome, DNA
Genom;DNA
775875, 849870, 553923
775875, 849870, 553923
DNA purification. NGS using Illumina NovaSeq 6000. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. NGS med Illumina NovaSeq 6000. Bioinformatik med Illumina Dragen Bio-IT platform.
Genomic DNA from blood
Genomisk DNA fra blod
Known variant
Kendt variant
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 339965, 704361, 282393
NGS Twist Exome, nov. 2022 915276, 294530, 291890, 62046, 771281, 935684, 667148, 339965, 704361, 282393
DNA purification. Enrichment using Twist Exome. NGS using Illumina NovaSeq 6000/NextSeq 550. Sanger sequencing and MLPA using ABI 3730XL DNA analyzer. Array using Affymetrix Cytoscan HD. Bioinformatics using Illumina Dragen Bio-IT platform.
DNA oprensning. Enrichment med Twist Exome. NGS med Illumina NovaSeq 6000/NextSeq 550. Sangersekventering og MLPA med ABI 3730XL DNA analyzer. Array på Affymetrix CytoScan 750K eller CytoScan HD. Bioinformatik med Illumina Dragen Bio-IT platform.